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Close Follow-Up of Patients with Neurofibromatosis Type 1 Reduces the Incidence of Malignant Peripheral Nerve Sheath Tumour.对1型神经纤维瘤病患者进行密切随访可降低恶性外周神经鞘膜瘤的发病率。
Cancers (Basel). 2025 Apr 12;17(8):1306. doi: 10.3390/cancers17081306.
2
Further evidence of the increased risk for malignant peripheral nerve sheath tumour from a Scottish cohort of patients with neurofibromatosis type 1.来自苏格兰1型神经纤维瘤病患者队列的恶性外周神经鞘瘤风险增加的进一步证据。
J Med Genet. 2007 Jul;44(7):463-6. doi: 10.1136/jmg.2006.048140. Epub 2007 Feb 27.
3
Vascular endothelial growth factor, basic fibroblast growth factor and epithelial growth factor receptor in peripheral nerve sheath tumors of neurofibromatosis type 1.1型神经纤维瘤病外周神经鞘瘤中的血管内皮生长因子、碱性成纤维细胞生长因子和上皮生长因子受体
Anticancer Res. 2015 Jan;35(1):137-44.
4
Malignant peripheral nerve sheath tumors (MPNST) in neurofibromatosis type 1 (NF1): diagnostic findings on magnetic resonance images and mutation analysis of the NF1 gene.1型神经纤维瘤病（NF1）中的恶性外周神经鞘瘤（MPNST）：磁共振成像的诊断结果及NF1基因的突变分析
Anticancer Res. 2005 May-Jun;25(3A):1699-702.
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Patterns of recurrence and survival in sporadic, neurofibromatosis Type 1-associated, and radiation-associated malignant peripheral nerve sheath tumors.散发型、神经纤维瘤病 1 型相关和放射相关恶性外周神经鞘瘤的复发和生存模式。
J Neurosurg. 2017 Jan;126(1):319-329. doi: 10.3171/2015.12.JNS152443. Epub 2016 Apr 1.
6
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Neurooncol Adv. 2024 Feb 9;6(1):vdae021. doi: 10.1093/noajnl/vdae021. eCollection 2024 Jan-Dec.
7
Consensus recommendations for an integrated diagnostic approach to peripheral nerve sheath tumors arising in the setting of Neurofibromatosis Type 1.1型神经纤维瘤病相关外周神经鞘瘤综合诊断方法的共识性建议
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Atypical Neurofibromatous Neoplasm with Uncertain Biologic Potential in the Posterior Mediastinum of a Young Patient with Neurofibromatosis Type 1: A Case Report.1型神经纤维瘤病年轻患者后纵隔具有不确定生物学潜能的非典型神经纤维瘤性肿瘤：病例报告
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Malignant Peripheral Nerve Sheath Tumors: Latest Concepts in Disease Pathogenesis and Clinical Management.恶性周围神经鞘膜瘤：疾病发病机制与临床管理的最新概念
Cancers (Basel). 2023 Feb 8;15(4):1077. doi: 10.3390/cancers15041077.
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Interferon-Induced Transmembrane Protein 1 (IFITM1) Is Downregulated in Neurofibromatosis Type 1-Associated Malignant Peripheral Nerve Sheath Tumors.干扰素诱导跨膜蛋白 1（IFITM1）在 1 型神经纤维瘤病相关恶性外周神经鞘瘤中下调。
Int J Mol Sci. 2024 Aug 27;25(17):9265. doi: 10.3390/ijms25179265.

本文引用的文献

1
Selumetinib in adults with NF1 and inoperable plexiform neurofibroma: a phase 2 trial.司美替尼治疗患有1型神经纤维瘤病（NF1）且无法手术切除的丛状神经纤维瘤成人患者：一项2期试验。
Nat Med. 2025 Jan;31(1):105-115. doi: 10.1038/s41591-024-03361-4. Epub 2025 Jan 6.
2
Consensus recommendations for an integrated diagnostic approach to peripheral nerve sheath tumors arising in the setting of Neurofibromatosis Type 1.1型神经纤维瘤病相关外周神经鞘瘤综合诊断方法的共识性建议
Neuro Oncol. 2025 Mar 7;27(3):616-624. doi: 10.1093/neuonc/noae235.
3
Early Detection of Malignant and Premalignant Peripheral Nerve Tumors Using Cell-Free DNA Fragmentomics.使用游离 DNA 片段组学早期检测恶性和癌前周围神经肿瘤。
Clin Cancer Res. 2024 Oct 1;30(19):4363-4376. doi: 10.1158/1078-0432.CCR-24-0797.
4
Advanced Imaging in the Diagnosis and Response Assessment of High-Grade Glioma: Expert Panel Narrative Review.高级成像技术在高级别胶质瘤诊断与疗效评估中的应用：专家小组叙述性综述
AJR Am J Roentgenol. 2025 Jan;224(1):e2330612. doi: 10.2214/AJR.23.30612. Epub 2025 Jan 8.
5
Endoglin, a Novel Biomarker and Therapeutical Target to Prevent Malignant Peripheral Nerve Sheath Tumor Growth and Metastasis.内皮糖蛋白，一种预防恶性外周神经鞘瘤生长和转移的新型生物标志物和治疗靶点。
Clin Cancer Res. 2023 Sep 15;29(18):3744-3758. doi: 10.1158/1078-0432.CCR-22-2462.
6
CDK4/6-MEK Inhibition in MPNSTs Causes Plasma Cell Infiltration, Sensitization to PD-L1 Blockade, and Tumor Regression.CDK4/6-MEK 抑制在 MPNSTs 中引起浆细胞浸润、对 PD-L1 阻断的敏感性增加和肿瘤消退。
Clin Cancer Res. 2023 Sep 1;29(17):3484-3497. doi: 10.1158/1078-0432.CCR-23-0749.
7
Malignant Peripheral Nerve Sheath Tumors: Latest Concepts in Disease Pathogenesis and Clinical Management.恶性周围神经鞘膜瘤：疾病发病机制与临床管理的最新概念
Cancers (Basel). 2023 Feb 8;15(4):1077. doi: 10.3390/cancers15041077.
8
MEK Inhibition Synergizes with TYK2 Inhibitors in NF1-Associated Malignant Peripheral Nerve Sheath Tumors.MEK 抑制与 TYK2 抑制剂在 NF1 相关的恶性外周神经鞘瘤中协同作用。
Clin Cancer Res. 2023 Apr 14;29(8):1592-1604. doi: 10.1158/1078-0432.CCR-22-3722.
9
ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1.1型神经纤维瘤病患者的ERN GENTURIS肿瘤监测指南
EClinicalMedicine. 2023 Jan 13;56:101818. doi: 10.1016/j.eclinm.2022.101818. eCollection 2023 Feb.
10
Ten-Year Follow-up of Internal Neurofibroma Growth Behavior in Adult Patients With Neurofibromatosis Type 1 Using Whole-Body MRI.1 型神经纤维瘤病患者使用全身 MRI 进行的神经内神经纤维瘤生长行为的 10 年随访。
Neurology. 2023 Feb 14;100(7):e661-e670. doi: 10.1212/WNL.0000000000201535. Epub 2022 Nov 4.

对1型神经纤维瘤病患者进行密切随访可降低恶性外周神经鞘膜瘤的发病率。

Close Follow-Up of Patients with Neurofibromatosis Type 1 Reduces the Incidence of Malignant Peripheral Nerve Sheath Tumour.

作者信息

Iasella Maria Pia, Ruttens Dries, Hompes Daphne, Vandecaveye Vincent, Sciot Raf, Deroose Christophe, Douchy Thomas, Decramer Thomas, Jacobs Sandra, Denayer Ellen, Van Calenbergh Frank, Legius Eric, Brems Hilde

机构信息

Centre for Human Genetics, University Hospitals Leuven, KU Leuven, 3000 Leuven, Belgium.

Department of Paediatric Oncology, University Hospitals Leuven, 3000 Leuven, Belgium.

出版信息

Cancers (Basel). 2025 Apr 12;17(8):1306. doi: 10.3390/cancers17081306.

DOI:10.3390/cancers17081306
PMID:40282482
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12025940/
Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition with a birth incidence of one in 2000 to one in 3000 [...].

摘要

1型神经纤维瘤病（NF1）是一种常染色体显性遗传病，出生发病率为2000分之一至3000分之一[...]。